Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

CodeSystem: Molecular Biomarker Ontology Codes (Experimental)

Official URL: http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/molecular-biomarker-ontology-cs Version: 3.0.1-SNAPSHOT
Active as of 2024-07-15 Computable Name: MolecularBiomarkerOntologyCS

This (experimental) code system provides for a draft categorization of biomarkers along several axes. Based on ballot feedback, the committee anticipates significant revisions.

This Code system is referenced in the content logical definition of the following value sets:

Generated Narrative: CodeSystem molecular-biomarker-ontology-cs

This case-sensitive code system http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/molecular-biomarker-ontology-cs defines the following codes in a Is-A hierarchy:

LvlCodeDisplayDefinition
1 _physiologyBiomarkerCategory Molecular biomarker physiologic role category A category based on the normal bodily function of the biomarker.
2   antibody antibody category Molecular biomarker physiologic role is an antibody.
2   antgen antigen category Molecular biomarker physiologic role is an antigen.
2   cellReceptor cell receptor category Molecular biomarker physiologic role is a cell receptor.
2   cellReceptorLigand cell receptor ligand category Molecular biomarker physiologic role is a cell receptor ligand.
1 _moleculeTypeBiomarkerCategory Molecular biomarker molecular type category A category based on the type of biomarker molecule.
2   carbohydrate carbohydrate category Molecular biomarker molecule type is a carbohydrate.
2   lipid lipid category Molecular biomarker molecule type is a lipid.
2   nucleicAcid nucleic acid category Molecular biomarker molecule type is a nucleic acid.
2   protein protein category Molecular biomarker molecule type is a protein. Includes single or multi-subunit proteins with or without post-translational modifications.
1 _methodBiomarkerCategory Molecular biomarker method type category A category based on the measurement ascertainment method of the biomarker. (Methods are drawn from LOINC (https://loinc.org/kb/users-guide/major-parts-of-a-loinc-term/#type-of-method-6th-part) and NCBI Genetic Testing Registry (https://www.ncbi.nlm.nih.gov/gtr/)).
2   enzymeAssay enzyme assay category Molecular biomarker method is enzyme assay.
2   flowCytometry flow cytometry category Molecular biomarker method is flow cytometry.
2   immuneStain immune stain category Molecular biomarker method is immune stain.
2   immunoassay immunoassay category Molecular biomarker method is immunoassay.
2   methylationAnalysis methylation analysis category Molecular biomarker method is methylation analysis.
2   molgen molecular sequence adjacent category Molecular biomarker method is molecular sequence adjacent observation.